KIDINS220

kinase D interacting substrate 220
OMIM: 615759
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly and arthrogryposis, OMIM:619501
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly and arthrogryposis, OMIM:619501
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296